Article
Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.
Annals of neurology - 1 Mar 2017
Lornage Xavière, Malfatti Edoardo, Chéraud Chrystel, Schneider Raphaël, Biancalana Valérie, Cuisset Jean-Marie, Garibaldi Matteo, Eymard Bruno, Fardeau Michel, Boland Anne, Deleuze Jean-François, Thompson Julie, Carlier Robert-Yves, Böhm Johann, Romero Norma B, Laporte Jocelyn
Abstract excerpt
Congenital myopathies are phenotypically and genetically heterogeneous. We describe homozygous truncating mutations in MYPN in 2 unrelated families with a slowly progressive congenital cap myopathy. MYPN encodes the Z-line protein myopalladin implicated in sarcomere integrity. Functional experiments demonstrate that the mutations lead to mRNA defects and to a strong reduction in full-length protein expression....
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